ClinVar for MedGen (Select 338264) - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1992406	NM_002894.3(RBBP8):c.428+6T>C	RBBP8	Single nucleotide variant (intron variant)	Seckel syndrome 2	GUncertain significance
Select item 1683598	NM_002894.3(RBBP8):c.2048T>G (p.Leu683Ter)	RBBP8 (L683*)	Single nucleotide variant (nonsense)	Seckel syndrome 2 +1 more	GLikely pathogenic
Select item 1515094	NM_002894.3(RBBP8):c.1928A>C (p.Gln643Pro)	RBBP8 (Q643P)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1490360	NM_002894.3(RBBP8):c.1939+20del	RBBP8	Deletion (intron variant)	Jawad syndrome +2 more	GUncertain significance
Select item 1368312	NM_002894.3(RBBP8):c.293A>G (p.His98Arg)	RBBP8 (H98R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1263878	NM_002894.3(RBBP8):c.605-48TCA[2]	RBBP8	Microsatellite (intron variant)	Seckel syndrome 2 +2 more	GBenign
Select item 1033552	NM_002894.3(RBBP8):c.2146G>A (p.Glu716Lys)	RBBP8 (E716K)	Single nucleotide variant (missense variant)	Jawad syndrome +3 more	GUncertain significance
Select item 673936	NM_002894.3(RBBP8):c.428+37T>C	RBBP8	Single nucleotide variant (intron variant)	Seckel syndrome 2 +2 more	GBenign
Select item 392730	NM_002894.3(RBBP8):c.139C>T (p.Gln47Ter)	RBBP8 (Q47*)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
Select item 326221	NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala)	RBBP8 (P246A)	Single nucleotide variant (missense variant)	Seckel syndrome 2 +2 more	GBenign/Likely benign
Select item 130107	NM_002894.3(RBBP8):c.2115G>A (p.Lys705=)	RBBP8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 130101	NM_002894.3(RBBP8):c.604+1G>T	RBBP8	Single nucleotide variant (splice donor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 127245	NM_002894.3(RBBP8):c.298C>T (p.Arg100Trp)	RBBP8 (R100W)	Single nucleotide variant (missense variant)	Jawad syndrome +2 more	GConflicting classifications of pathogenicity
Select item 30408	NM_002894.3(RBBP8):c.2287+53T>G	RBBP8	Single nucleotide variant (intron variant)	Seckel syndrome 2	GPathogenic